G15C (p.Gly15Cys) variant of RBM20 (RNA-binding protein 20)
G15C (p.Gly15Cys) in RBM20 (RNA-binding protein 20) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G15C (p.Gly15Cys) variant details
- p.Gly15Cys
- gnomAD 10-110644497-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.57
- MetaSVM -0.30
- CADD 23.60
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available